There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families.
Existing guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome.
….Another approach to deliver effective diagnosis is to develop ‘mainstreaming’ models whereby patients are offered constitutional genetic testing by their cancer treating teams locally, rather than relying on referral of eligible patients to tertiary services such as clinical genetics.
Conclusions
Whilst there is increased awareness of the cancer risks associated with LS, and other aspects of the condition, by clinicians, there remain significant gains which can be made in diagnosis and subsequent lifelong management of people with LS.
Effective diagnosis needs to deliver people with this condition to effective clinical risk mitigation through a range of mechanisms including nationally coordinated and quality-assured colonoscopic surveillance.
In this project, we have aimed to develop expertise within cancer teams across England, with clear responsibilities, leadership from within which will ensure that the patients they are managing with cancer will receive appropriate testing and delivery diagnosis.
The responsibility for managing cascade testing remains with specialist genomics services.
However lifelong care of people diagnosed with this condition depends on awareness of who this population is, as defined through a national registry, and access to regional multidisciplinary expertise.
https://www.bsg.org.uk/service-success-stories/the-english-national-lynch-syndrome-transformation-project/
Lynch Syndrome Ireland 